Absence of cheeck muscles or nerves supplying those muscles (resulting in an uneven smile)

The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial microsomia.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Facial asymmetry

90%

Hearing impairment

90%

Micrognathia

90%

Preauricular skin tag

90%

Abnormal form of the vertebral bodies

50%

Abnormality of the inner ear

50%

Abnormality of the middle ear

50%

Atresia of the external auditory canal

50%

Cleft palate

50%

Epibulbar dermoid

50%

Low-set, posteriorly rotated ears

50%

Neurological speech impairment

50%

Non-midline cleft lip

50%

Abnormal localization of kidney

7.5%

Abnormality of the pharynx

7.5%

Abnormality of the ribs

7.5%

Aplasia/Hypoplasia affecting the eye

7.5%

Aplasia/Hypoplasia of the corpus callosum

7.5%

Aplasia/Hypoplasia of the lungs

7.5%

Aplasia/Hypoplasia of the thumb

7.5%

Autism

7.5%

Cerebral cortical atrophy

7.5%

Cleft eyelid

7.5%

Cognitive impairment

7.5%

Laryngomalacia

7.5%

Muscular hypotonia

7.5%

Renal hypoplasia/aplasia

7.5%

Scoliosis

7.5%

Short stature

7.5%

Tetralogy of Fallot

7.5%

Tracheoesophageal fistula

7.5%

Tracheomalacia

7.5%

Ventricular septal defect

7.5%

Ventriculomegaly

7.5%

Vertebral segmentation defect

7.5%

Visual impairment

7.5%

Wide mouth

7.5%

Agenesis of corpus callosum

-

Anophthalmia

-

Anotia

-

Arnold-Chiari malformation

-

Autosomal dominant inheritance

-

Blepharophimosis

-

Block vertebrae

-

Branchial anomaly

-

Cleft upper lip

-

Coarctation of aorta

-

Conductive hearing impairment

-

Ectopic kidney

-

Hemivertebrae

-

Hydrocephalus

-

Hypoplasia of facial musculature

-

Hypoplasia of the maxilla

-

Intellectual disability

-

Malar flattening

-

Microphthalmos

-

Microtia

-

Multicystic kidney dysplasia

-

Occipital encephalocele

-

Patent ductus arteriosus

-

Pulmonary hypoplasia

-

Renal agenesis

-

Strabismus

-

Unilateral external ear deformity

-

Upper eyelid coloboma

-

Ureteropelvic junction obstruction

-

Vertebral hypoplasia

-

Vesicoureteral reflux

-

Last updated: 3/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.